Association of vitiligo with HLA-A2: a meta-analysis

BACKGROUND: Linkage and association studies suggest that the human leucocyte antigen (HLA) region may be involved in the genetic susceptibility of vitiligo. HLA-A2 has been reported to be associated with vitiligo in some, but not all, studies. OBJECTIVE: To identify sources of the heterogeneity among studies and to quantify effect estimates, we examined the association of HLA-A2 with vitiligo in a meta-analysis of all observational studies comparing the frequencies of HLA-A2 between vitiligo individuals and controls during 1966-2005. METHODS: The summary odds ratio (OR) was calculated by using a fixed- or a random-effects model. Meta-regression analysis was undertaken to investigate the effects of study characteristics on the pooled OR. RESULTS: Eleven case-controlled studies fulfilled our inclusion criteria. The studies identified a total of 777 patients and 4820 controls. Meta-analysis showed a significantly increased frequency of HLA-A2 in vitiligo among cases [OR = 2.07, 95% confidence interval (CI) 1.67-2.58]. Heterogeneity was explained by the quality of the study and the ethnic background of the participants. Meta-regression analysis further showed that the percentage of familial vitiligo among the subjects had a significant effect on the pooled OR (P = 0.008). No study had a significant effect on the pooled OR and no publication bias presented in the studies analysed (P = 0.688). CONCLUSION: These findings strongly suggest an association between HLA-A2 and vitiligo.     

X-linked hypophosphatemia in adults: prevalence of skeletal radiographic and scintigraphic features

The radiologic studies of 38 essentially untreated adults with X-linked hypophosphatemia (XLH) were reviewed to determine the prevalence of radiologic features, to compare the findings in men and in women, and to elucidate the natural history of the disease by comparing the findings in young, intermediate-age, and older patients. Bone-reinforcement lines were common, but no characteristic mineral mass alteration was established. Looser zones were more prevalent in older subjects. Osteoarthritis was common, occurring in the ankles, knees, feet, sacroiliac joints, and wrists. Enthesopathy was infrequent in the younger group but was present in every member of the intermediate and older groups and was often accompanied by extra ossicles. Curvatures of the lower-extremity long bones were common in all age groups. Three new skeletal alterations in XLH were found to be common: flaring of the iliac wings, trapezoidal distal femoral condyles, and alterations in talar morphology, including shortening of the talar neck and flattening of the talar dome. Technetium-99m methylene diphosphonate scintigrams of 17 subjects were often abnormal, depicting bowing deformity and focal tracer accumulation in diaphyseal cortices and in periarticular and extraarticular regions. The mean metabolic index was moderately elevated (4.0). Both radiographic and scintigraphic findings were more severe in men, consistent with hemizygosity. The natural history of untreated XLH in both sexes is characterized by the development of a variety of age-related skeletal abnormalities during adulthood.     

German dental faculty attitudes towards computer-assisted simulation systems correlated with personal and professional profiles

BACKGROUND: Computer technology is increasingly used in practical training at universities. However, in spite of their potential, computer-assisted simulation (CAS) systems still appear to be underutilised. OBJECTIVES: To investigate the practical usage of CAS/computer-assisted learning (CAL) systems, the familiarity and level of use of CAS systems, as well as the acceptance of approved learning content and English as the language of instruction in CAS/CAL systems. METHODS: A survey was conducted in the Departments of Conservative Dentistry and Prosthetic Dentistry of all 32 dental schools in Germany. Besides investigating the usefulness of, familiarity with and level of current usage of CAS systems, the questionnaire also contained questions regarding each respondent's gender, age, academic rank, experience in academia and computer skills, all of which correlated with the responses. RESULTS: The response rate was 90% (112 out of 125). The use of CAS/CAL systems was considered 'partly' to 'very' useful for evaluating the acquisition of knowledge (83.9%), qualitative issues (73.2%) and processes (72.3%) of dental preparation exercises and complex treatment strategies. However, only about half the respondents reported that they knew of, and even fewer used, the following systems in preclinical or clinical training: EDUnet (KaVo, Germany) (46.3%/0.9 %), PREPassistant (KaVo, Germany) (50%/0.9%), or the DentSim system (DenX, Israel) (52.8%/1.9%). The virtual simulation system VRDTS-CP (Novint, USA), used by none of the respondents, was known to only 16.5%. Responders agreed at least partly to accept approved learning content (74.9%) and English as the language of instruction (82.1%) as the standards for CAS systems. CONCLUSION: The survey indicates a distinct discrepancy between a generally positive attitude towards the usefulness of computer technology for dental education, the level of familiarity with current computer systems and their actual use. However, two prerequisites for ultimately decreasing the cost and increasing the usage of CAS systems--the acceptance of approved learning content and English as the language of instruction in CAS systems--seem to be generally accepted by respondents.     

Women worried about their familial breast cancer risk--a study on genetic advice in general practice

AIMS: To ascertain whether women who consulted their GP because they perceived themselves as at increased risk of familial breast cancer were indeed at increased risk, and to evaluate potential strategies for assessing genetic risk of breast cancer in general practice. METHODS: Sixty-seven out of 81 women who had consulted their GP for advice about their possible increased risk of developing breast cancer due to breast cancer in the family were interviewed. Familial breast cancer risk was assessed by a clinical geneticist. This assessment was compared with two recent guidelines for referral for genetic counselling. RESULTS: More than half (52%; n = 35) the women had a relative risk of two and over for developing breast cancer, while another half of these 35 (25%; n = 17) had a relative risk of three and over. All the women (n = 17) with a relative risk of three and over were identified by means of the two current guidelines for referral for genetic counselling, while more than half of the women (61%; n = 11) with a relative risk between two and three were identified. CONCLUSIONS: More than half the women concerned about their familial risk of breast cancer are indeed at increased risk of breast cancer. Current guidelines correctly identify women at high risk. However, doubts about the health gain and feasibility of referral warrant caution, and need further investigation.